ClinVar Miner

Submissions for variant NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) (rs34292743)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514085 SCV000610666 benign not provided 2017-05-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081172 SCV000113080 benign not specified 2014-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000081172 SCV000196853 benign not specified 2014-07-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000081172 SCV000193504 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293431 SCV000438154 likely benign Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329680 SCV000438155 likely benign Walker-Warburg Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000553171 SCV000638976 benign Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 2017-12-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081172 SCV000310631 benign not specified criteria provided, single submitter clinical testing

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